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Protein

Protein O-glucosyltransferase 1

Gene

POGLUT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding.3 Publications

Catalytic activityi

Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.

Kineticsi

  1. KM=72 µM for UDP-Glc1 Publication
  1. Vmax=7.6 pmol/min/µg enzyme1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • glucosyltransferase activity Source: MGI
  • protein xylosyltransferase activity Source: UniProtKB-EC
  • UDP-glucosyltransferase activity Source: UniProtKB
  • UDP-xylosyltransferase activity Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiR-HSA-1912399. Pre-NOTCH Processing in the Endoplasmic Reticulum.
SIGNORiQ8NBL1.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT90. Glycosyltransferase Family 90.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-glucosyltransferase 1 (EC:2.4.1.-)
Alternative name(s):
CAP10-like 46 kDa protein
Short name:
hCLP46
KTEL motif-containing protein 1
Myelodysplastic syndromes relative protein
O-glucosyltransferase Rumi homolog
Short name:
hRumi
Protein O-xylosyltransferase (EC:2.4.2.26)
Gene namesi
Name:POGLUT1
Synonyms:C3orf9, CLP46, KTELC1, MDSRP
ORF Names:MDS010, UNQ490/PRO1006
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:22954. POGLUT1.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum lumen Source: UniProtKB
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Dowling-Degos disease 4 (DDD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
See also OMIM:615696

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi169G → E: Loss of O-glucosyltransferase activity. 1 Publication1

Organism-specific databases

DisGeNETi56983.
MalaCardsiPOGLUT1.
MIMi615696. phenotype.
OpenTargetsiENSG00000163389.
Orphaneti79145. Dowling-Degos disease.
PharmGKBiPA162393771.

Polymorphism and mutation databases

BioMutaiPOGLUT1.
DMDMi74730148.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 231 PublicationAdd BLAST23
ChainiPRO_000024668524 – 392Protein O-glucosyltransferase 1Add BLAST369

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...)Sequence analysis1
Glycosylationi53N-linked (GlcNAc...)Sequence analysis1
Glycosylationi204N-linked (GlcNAc...)Sequence analysis1
Glycosylationi373N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NBL1.
MaxQBiQ8NBL1.
PaxDbiQ8NBL1.
PeptideAtlasiQ8NBL1.
PRIDEiQ8NBL1.

PTM databases

iPTMnetiQ8NBL1.
PhosphoSitePlusiQ8NBL1.

Expressioni

Tissue specificityi

Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000163389.
CleanExiHS_KTELC1.
ExpressionAtlasiQ8NBL1. baseline and differential.
GenevisibleiQ8NBL1. HS.

Organism-specific databases

HPAiHPA037855.

Interactioni

Protein-protein interaction databases

BioGridi121300. 27 interactors.
STRINGi9606.ENSP00000295588.

Structurei

3D structure databases

ProteinModelPortaliQ8NBL1.
SMRiQ8NBL1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi389 – 392Endoplasmic reticulum retention signalBy similarity4

Sequence similaritiesi

Belongs to the glycosyltransferase 90 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2458. Eukaryota.
ENOG410XT5U. LUCA.
GeneTreeiENSGT00530000063132.
HOVERGENiHBG069044.
InParanoidiQ8NBL1.
KOiK13667.
OMAiINHLQMD.
OrthoDBiEOG091G0BPU.
PhylomeDBiQ8NBL1.
TreeFamiTF323280.

Family and domain databases

InterProiIPR006598. LipoPS_modifying.
[Graphical view]
PfamiPF05686. Glyco_transf_90. 1 hit.
[Graphical view]
SMARTiSM00672. CAP10. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NBL1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS
60 70 80 90 100
SQNCSCYHGV IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN
110 120 130 140 150
DCMFPSRCSG VEHFILEVIG RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF
160 170 180 190 200
SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG LGRWDLFRED LVRSAAQWPW
210 220 230 240 250
KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ AWKSMKDTLG
260 270 280 290 300
KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF
310 320 330 340 350
FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL
360 370 380 390
QMDDITCYWE NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL
Length:392
Mass (Da):46,189
Last modified:October 1, 2002 - v1
Checksum:i25B0370757A6B224
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287G → D in BAD96657 (Ref. 5) Curated1
Sequence conflicti371S → P in BAD96657 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02704175K → R.1 PublicationCorresponds to variant rs11556605dbSNPEnsembl.1
Natural variantiVAR_027042229P → T.1 PublicationCorresponds to variant rs17852785dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY298903 mRNA. Translation: AAP56253.1.
AY358581 mRNA. Translation: AAQ88944.1.
AK075444 mRNA. Translation: BAC11625.1.
AK222937 mRNA. Translation: BAD96657.1.
AK315367 mRNA. Translation: BAG37760.1.
AC074271 Genomic DNA. No translation available.
AC073352 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79570.1.
BC030614 mRNA. Translation: AAH30614.1.
BC048810 mRNA. Translation: AAH48810.1.
CCDSiCCDS2988.1.
RefSeqiNP_689518.1. NM_152305.2.
UniGeneiHs.231750.

Genome annotation databases

EnsembliENST00000295588; ENSP00000295588; ENSG00000163389.
GeneIDi56983.
KEGGihsa:56983.
UCSCiuc003ecm.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY298903 mRNA. Translation: AAP56253.1.
AY358581 mRNA. Translation: AAQ88944.1.
AK075444 mRNA. Translation: BAC11625.1.
AK222937 mRNA. Translation: BAD96657.1.
AK315367 mRNA. Translation: BAG37760.1.
AC074271 Genomic DNA. No translation available.
AC073352 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79570.1.
BC030614 mRNA. Translation: AAH30614.1.
BC048810 mRNA. Translation: AAH48810.1.
CCDSiCCDS2988.1.
RefSeqiNP_689518.1. NM_152305.2.
UniGeneiHs.231750.

3D structure databases

ProteinModelPortaliQ8NBL1.
SMRiQ8NBL1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121300. 27 interactors.
STRINGi9606.ENSP00000295588.

Protein family/group databases

CAZyiGT90. Glycosyltransferase Family 90.

PTM databases

iPTMnetiQ8NBL1.
PhosphoSitePlusiQ8NBL1.

Polymorphism and mutation databases

BioMutaiPOGLUT1.
DMDMi74730148.

Proteomic databases

EPDiQ8NBL1.
MaxQBiQ8NBL1.
PaxDbiQ8NBL1.
PeptideAtlasiQ8NBL1.
PRIDEiQ8NBL1.

Protocols and materials databases

DNASUi56983.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295588; ENSP00000295588; ENSG00000163389.
GeneIDi56983.
KEGGihsa:56983.
UCSCiuc003ecm.4. human.

Organism-specific databases

CTDi56983.
DisGeNETi56983.
GeneCardsiPOGLUT1.
HGNCiHGNC:22954. POGLUT1.
HPAiHPA037855.
MalaCardsiPOGLUT1.
MIMi615618. gene.
615696. phenotype.
neXtProtiNX_Q8NBL1.
OpenTargetsiENSG00000163389.
Orphaneti79145. Dowling-Degos disease.
PharmGKBiPA162393771.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2458. Eukaryota.
ENOG410XT5U. LUCA.
GeneTreeiENSGT00530000063132.
HOVERGENiHBG069044.
InParanoidiQ8NBL1.
KOiK13667.
OMAiINHLQMD.
OrthoDBiEOG091G0BPU.
PhylomeDBiQ8NBL1.
TreeFamiTF323280.

Enzyme and pathway databases

UniPathwayiUPA00378.
ReactomeiR-HSA-1912399. Pre-NOTCH Processing in the Endoplasmic Reticulum.
SIGNORiQ8NBL1.

Miscellaneous databases

GenomeRNAii56983.
PROiQ8NBL1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163389.
CleanExiHS_KTELC1.
ExpressionAtlasiQ8NBL1. baseline and differential.
GenevisibleiQ8NBL1. HS.

Family and domain databases

InterProiIPR006598. LipoPS_modifying.
[Graphical view]
PfamiPF05686. Glyco_transf_90. 1 hit.
[Graphical view]
SMARTiSM00672. CAP10. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPGLT1_HUMAN
AccessioniPrimary (citable) accession number: Q8NBL1
Secondary accession number(s): B2RD13, Q53GJ4, Q8N2T1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.